New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood

New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood

We present a case of hereditary thrombotic thrombocytopenic purpura (hTTP) caused by a previously undescribed mutation in a 36-year-old woman who presented with seizures in the context of a possible infection. Her hematologic manifestations were mild, despite undetectable ADAMTS13 (A Distintegrin an...

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Bibliographic Details
Main Authors: Carolyne Elbaz, Michelle Sholzberg, Hina Hanif, Arnaud Bonnefoy, Katerina Pavenski
Format: Article
Language:English
Published: Taylor & Francis Group 2020-11-01
Series:Platelets
Subjects:
congenital thrombotic thrombocytopenic purpura
upshaw-schulman syndrome
adamts13 protease
plasma exchange
Online Access:http://dx.doi.org/10.1080/09537104.2020.1732327

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